W114S (p.Trp114Ser) variant of IL12RB1 (P42701)
W114S (p.Trp114Ser) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
W114S (p.Trp114Ser) variant details
- p.Trp114Ser
- ESP rs372512479
- ExAC rs372512479
- TOPMed rs372512479
- gnomAD rs372512479
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 24.30
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)